ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln) (rs750889782)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genetics - Radboudumc,Radboudumc RCV000678575 SCV000804655 pathogenic Leber congenital amaurosis 1 2016-09-01 no assertion criteria provided clinical testing
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003041 SCV001161098 pathogenic Leber congenital amaurosis 2019-06-23 no assertion criteria provided research

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